Dealing With Diagnosis

Felix was two and a half years old. We had been to a specialist who diagnosed him with hypermobility, attributing this to his constant falling. He had reached all of the normal milestones; walked at one, talked at two and although a little delayed, there were no red flags. Almost as an after thought, the specialist looked at Felix’s calf muscles. It makes me feel really uncomfortable even now, thinking back. That he knew then what was in store for us, even before he did the CK test, which suddenly became urgent, he knew it was Duchenne Muscular Dystrophy.

Felix was so brave. For him, he was the same boy he was the day before. It was us who had changed. The only thing that kept me going was the denial of any future trajectory past the one happening in front of me. The only thing I could do was appreciate each moment, because suddenly, life had become more precious than ever before, and simultaneously unbearable.

Within two weeks, we were walking towards Great Ormond Street Hospital and we couldn’t rationalise it; there must have been an error in the result because Felix’s CK count was 33,000. A heart attack was 800, so what could it be other than a lab error?

In the hospital, I had the sense that this was all a horrible mistake and it would go away when they saw him. Incredible looking and just a delightful little boy. I expected a long wait in the waiting room, but we were ushered straight in to a private room where two doctors sat and waited for the consultant. They also knew. And the black thread of doubt started wrapping itself around my optimism.

There were so many questions we had to answer. Felix was asked to perform bizarre tasks and I found myself rooting for him and I didn’t know why. I didn’t know what they were looking at or for. I only saw my beautiful child, trying his best. Finally, we were asked what we wanted to get out of the consultation. I said ‘a clean bill of health’ - that was my optimism’s last effort to beat the squeeze of the tightening black thread. And then it was gone, because without even doing a DNA test or biopsy, the consultant said that Felix probably had muscular dystrophy. While there are many different types, he suspects that my little boy, my magnificent child, had the most severe form, called ‘Duchenne.'

He kept saying ‘Duchenne’ and I just couldn’t understand him. I didn’t know what it meant. He handed my husband papers while I sat drawing with Felix, reeling into an underworld. When I found my voice I asked the consultant to put the word ‘Duchenne’ into layman’s terms for me. He said that children with Duchenne need a wheelchair by 10 or 12, sometimes earlier, rarely later. He carried on speaking, but everything went black. Something died inside me. It was the child I thought I had and the life I thought we’d have together.

Felix was so brave. For him, he was the same boy he was the day before. It was us who had changed. The only thing that kept me going was the denial of any future trajectory past the one happening in front of me. The only thing I could do was appreciate each moment, because suddenly, life had become more precious than ever before, and simultaneously unbearable.

It took me a long time to remain present and I can’t always do it. But it is the only thing that brings me back to life. And I must live, because Felix needs me to, because his little sister does, and because while it can sometimes feel unbearable, life is so precious. And. Each. Moment. Counts.

Robyn is a mother to Felix, one of the World’s Strongest Boys.

Robyn became involved with Duchenne UK after reaching out following her sons diagnosis. When Robyn met with Emily and Alex, Co-founders of Duchenne UK, it was clear that they all had the same determination; they would not to accept the sentence handed to their children.

Duchenne affects approximately 1 in every 3,500 boys that are born but only around 1 in every 50 million girls. It may be rare, but it does happen. We have been speaking to Feriel, a 26 year old woman living with Duchenne muscular dystrophy. She has written us a short blog about her experiences with Duchenne from diagnosis to now.

Decipha work face to face with families and offer a range of assessments and valuable support to boys with DMD and their families. Continue reading for a parent story about Decipha and more information from Nick, the founder of Decipha.

Sejal Thakrar from Smile with Shiv has written a blog discussing the many things they considered when starting their son, Shiv, on heart medication. Sejal highlights the importance of learning as much as possible about Duchenne.

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Duchenne affects approximately 1 in every 3,500 boys that are born but only around 1 in every 50 million girls. It may be rare, but it does happen. We have been speaking to Feriel, a 26 year old woman living with Duchenne muscular dystrophy. She has written us a short blog about her experiences with Duchenne from diagnosis to now.

Our co-founders Alex Johnson and Emily Crossley met after their sons were diagnosed with Duchenne muscular dystrophy. They both set up charities, Alex with Joining Jack, Emily with the Duchenne Children’s Trust.

We are proud to share with you our first ever Impact Report, read about the very real impact we are having and the many things we have been working on over the past six years to end Duchenne.
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